Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000374469
Querying Taster for transcript #2: ENST00000401783
Querying Taster for transcript #3: ENST00000302728
MT speed 0 s - this script 3.588848 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SVEP1polymorphism_automatic9.99200722162641e-16simple_aaeK876Rsingle base exchangers10817025show file
SVEP1polymorphism_automatic9.99200722162641e-16simple_aaeK899Rsingle base exchangers10817025show file
SVEP1polymorphism_automatic9.99200722162641e-16simple_aaeK899Rsingle base exchangers10817025show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:113234507T>CN/A show variant in all transcripts   IGV
HGNC symbol SVEP1
Ensembl transcript ID ENST00000374469
Genbank transcript ID N/A
UniProt peptide Q4LDE5
alteration type single base exchange
alteration region CDS
DNA changes c.2627A>G
cDNA.2891A>G
g.107654A>G
AA changes K876R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 876
frameshift no
known variant Reference ID: rs10817025
databasehomozygous (C/C)heterozygousallele carriers
1000G133731864
ExAC41672176025927
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2050.013
0.5650.009
(flanking)0.2140.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      876VQETATSIGNAKSSRIKRSAPLSD
mutated  all conserved    876VQETATSIGNARSSRIKRSAPLS
Ptroglodytes  all conserved  ENSPTRG00000021246  899VQETATSIGNARSSRIKRSAPLS
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000004796  636VQETPS--GKARSSRMKRSALLS
Mmusculus  all conserved  ENSMUSG00000028369  898VQETPTDVGKARSSRIKRTVPLS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0032797  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 10647 / 10647
position (AA) of stopcodon in wt / mu AA sequence 3549 / 3549
position of stopcodon in wt / mu cDNA 10911 / 10911
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 265 / 265
chromosome 9
strand -1
last intron/exon boundary 10890
theoretical NMD boundary in CDS 10575
length of CDS 10647
coding sequence (CDS) position 2627
cDNA position
(for ins/del: last normal base / first normal base)		 2891
gDNA position
(for ins/del: last normal base / first normal base)		 107654
chromosomal position
(for ins/del: last normal base / first normal base)		 113234507
original gDNA sequence snippet CACAAGCATCGGCAATGCCAAGTCCTCACGGATTAAAAGAA
altered gDNA sequence snippet CACAAGCATCGGCAATGCCAGGTCCTCACGGATTAAAAGAA
original cDNA sequence snippet CACAAGCATCGGCAATGCCAAGTCCTCACGGATTAAAAGAA
altered cDNA sequence snippet CACAAGCATCGGCAATGCCAGGTCCTCACGGATTAAAAGAA
wildtype AA sequence MSPSRNFSFR LFPETAPGAP GSIPAPPAPG DEAAGSRVER LGQAFRRRVR LLRELSERLE
LVFLVDDSSS VGEVNFRSEL MFVRKLLSDF PVVPTATRVA IVTFSSKNYV VPRVDYISTR
RARQHKCALL LQEIPAISYR GGGTYTKGAF QQAAQILLHA RENSTKVVFL ITDGYSNGGD
PRPIAASLRD SGVEIFTFGI WQGNIRELND MASTPKEEHC YLLHSFEEFE ALARRALHED
LPSGSFIQDD MVHCSYLCDE GKDCCDRMGS CKCGTHTGHF ECICEKGYYG KGLQYECTAC
PSGTYKPEGS PGGISSCIPC PDENHTSPPG STSPEDCVCR EGYRASGQTC ELVHCPALKP
PENGYFIQNT CNNHFNAACG VRCHPGFDLV GSSIILCLPN GLWSGSESYC RVRTCPHLRQ
PKHGHISCST REMLYKTTCL VACDEGYRLE GSDKLTCQGN SQWDGPEPRC VERHCSTFQM
PKDVIISPHN CGKQPAKFGT ICYVSCRQGF ILSGVKEMLR CTTSGKWNVG VQAAVCKDVE
APQINCPKDI EAKTLEQQDS ANVTWQIPTA KDNSGEKVSV HVHPAFTPPY LFPIGDVAIV
YTATDLSGNQ ASCIFHIKVI DAEPPVIDWC RSPPPVQVSE KVHAASWDEP QFSDNSGAEL
VITRSHTQGD LFPQGETIVQ YTATDPSGNN RTCDIHIVIK GSPCEIPFTP VNGDFICTPD
NTGVNCTLTC LEGYDFTEGS TDKYYCAYED GVWKPTYTTE WPDCAKKRFA NHGFKSFEMF
YKAARCDDTD LMKKFSEAFE TTLGKMVPSF CSDAEDIDCR LEENLTKKYC LEYNYDYENG
FAIGPGGWGA ANRLDYSYDD FLDTVQETAT SIGNAKSSRI KRSAPLSDYK IKLIFNITAS
VPLPDERNDT LEWENQQRLL QTLETITNKL KRTLNKDPMY SFQLASEILI ADSNSLETKK
ASPFCRPGSV LRGRMCVNCP LGTYYNLEHF TCESCRIGSY QDEEGQLECK LCPSGMYTEY
IHSRNISDCK AQCKQGTYSY SGLETCESCP LGTYQPKFGS RSCLSCPENT STVKRGAVNI
SACGVPCPEG KFSRSGLMPC HPCPRDYYQP NAGKAFCLAC PFYGTTPFAG SRSITECSSF
SSTFSAAEES VVPPASLGHI KKRHEISSQV FHECFFNPCH NSGTCQQLGR GYVCLCPLGY
TGLKCETDID ECSPLPCLNN GVCKDLVGEF ICECPSGYTG QRCEENINEC SSSPCLNKGI
CVDGVAGYRC TCVKGFVGLH CETEVNECQS NPCLNNAVCE DQVGGFLCKC PPGFLGTRCG
KNVDECLSQP CKNGATCKDG ANSFRCLCAA GFTGSHCELN INECQSNPCR NQATCVDELN
SYSCKCQPGF SGKRCETEQS TGFNLDFEVS GIYGYVMLDG MLPSLHALTC TFWMKSSDDM
NYGTPISYAV DNGSDNTLLL TDYNGWVLYV NGREKITNCP SVNDGRWHHI AITWTSANGI
WKVYIDGKLS DGGAGLSVGL PIPGGGALVL GQEQDKKGEG FSPAESFVGS ISQLNLWDYV
LSPQQVKSLA TSCPEELSKG NVLAWPDFLS GIVGKVKIDS KSIFCSDCPR LGGSVPHLRT
ASEDLKPGSK VNLFCDPGFQ LVGNPVQYCL NQGQWTQPLP HCERISCGVP PPLENGFHSA
DDFYAGSTVT YQCNNGYYLL GDSRMFCTDN GSWNGVSPSC LDVDECAVGS DCSEHASCLN
VDGSYICSCV PPYTGDGKNC AEPIKCKAPG NPENGHSSGE IYTVGAEVTF SCQEGYQLMG
VTKITCLESG EWNHLIPYCK AVSCGKPAIP ENGCIEELAF TFGSKVTYRC NKGYTLAGDK
ESSCLANSSW SHSPPVCEPV KCSSPENINN GKYILSGLTY LSTASYSCDT GYSLQGPSII
ECTASGIWDR APPACHLVFC GEPPAIKDAV ITGNNFTFRN TVTYTCKEGY TLAGLDTIEC
LADGKWSRSD QQCLAVSCDE PPIVDHASPE TAHRLFGDIA FYYCSDGYSL ADNSQLLCNA
QGKWVPPEGQ DMPRCIAHFC EKPPSVSYSI LESVSKAKFA AGSVVSFKCM EGFVLNTSAK
IECMRGGQWN PSPMSIQCIP VRCGEPPSIM NGYASGSNYS FGAMVAYSCN KGFYIKGEKK
STCEATGQWS SPIPTCHPVS CGEPPKVENG FLEHTTGRIF ESEVRYQCNP GYKSVGSPVF
VCQANRHWHS ESPLMCVPLD CGKPPPIQNG FMKGENFEVG SKVQFFCNEG YELVGDSSWT
CQKSGKWNKK SNPKCMPAKC PEPPLLENQL VLKELTTEVG VVTFSCKEGH VLQGPSVLKC
LPSQQWNDSF PVCKIVLCTP PPLISFGVPI PSSALHFGST VKYSCVGGFF LRGNSTTLCQ
PDGTWSSPLP ECVPVECPQP EEIPNGIIDV QGLAYLSTAL YTCKPGFELV GNTTTLCGEN
GHWLGGKPTC KAIECLKPKE ILNGKFSYTD LHYGQTVTYS CNRGFRLEGP SALTCLETGD
WDVDAPSCNA IHCDSPQPIE NGFVEGADYS YGAIIIYSCF PGFQVAGHAM QTCEESGWSS
SIPTCMPIDC GLPPHIDFGD CTKLKDDQGY FEQEDDMMEV PYVTPHPPYH LGAVAKTWEN
TKESPATHSS NFLYGTMVSY TCNPGYELLG NPVLICQEDG TWNGSAPSCI SIECDLPTAP
ENGFLRFTET SMGSAVQYSC KPGHILAGSD LRLCLENRKW SGASPRCEAI SCKKPNPVMN
GSIKGSNYTY LSTLYYECDP GYVLNGTERR TCQDDKNWDE DEPICIPVDC SSPPVSANGQ
VRGDEYTFQK EIEYTCNEGF LLEGARSRVC LANGSWSGAT PDCVPVRCAT PPQLANGVTE
GLDYGFMKEV TFHCHEGYIL HGAPKLTCQS DGNWDAEIPL CKPVNCGPPE DLAHGFPNGF
SFIHGGHIQY QCFPGYKLHG NSSRRCLSNG SWSGSSPSCL PCRCSTPVIE YGTVNGTDFD
CGKAARIQCF KGFKLLGLSE ITCEADGQWS SGFPHCEHTS CGSLPMIPNA FISETSSWKE
NVITYSCRSG YVIQGSSDLI CTEKGVWSQP YPVCEPLSCG SPPSVANAVA TGEAHTYESE
VKLRCLEGYT MDTDTDTFTC QKDGRWFPER ISCSPKKCPL PENITHILVH GDDFSVNRQV
SVSCAEGYTF EGVNISVCQL DGTWEPPFSD ESCSPVSCGK PESPEHGFVV GSKYTFESTI
IYQCEPGYEL EGNRERVCQE NRQWSGGVAI CKETRCETPL EFLNGKADIE NRTTGPNVVY
SCNRGYSLEG PSEAHCTENG TWSHPVPLCK PNPCPVPFVI PENALLSEKE FYVDQNVSIK
CREGFLLQGH GIITCNPDET WTQTSAKCEK ISCGPPAHVE NAIARGVHYQ YGDMITYSCY
SGYMLEGFLR SVCLENGTWT SPPICRAVCR FPCQNGGICQ RPNACSCPEG WMGRLCEEPI
CILPCLNGGR CVAPYQCDCP PGWTGSRCHT AVCQSPCLNG GKCVRPNRCH CLSSWTGHNC
SRKRRTGF*
mutated AA sequence MSPSRNFSFR LFPETAPGAP GSIPAPPAPG DEAAGSRVER LGQAFRRRVR LLRELSERLE
LVFLVDDSSS VGEVNFRSEL MFVRKLLSDF PVVPTATRVA IVTFSSKNYV VPRVDYISTR
RARQHKCALL LQEIPAISYR GGGTYTKGAF QQAAQILLHA RENSTKVVFL ITDGYSNGGD
PRPIAASLRD SGVEIFTFGI WQGNIRELND MASTPKEEHC YLLHSFEEFE ALARRALHED
LPSGSFIQDD MVHCSYLCDE GKDCCDRMGS CKCGTHTGHF ECICEKGYYG KGLQYECTAC
PSGTYKPEGS PGGISSCIPC PDENHTSPPG STSPEDCVCR EGYRASGQTC ELVHCPALKP
PENGYFIQNT CNNHFNAACG VRCHPGFDLV GSSIILCLPN GLWSGSESYC RVRTCPHLRQ
PKHGHISCST REMLYKTTCL VACDEGYRLE GSDKLTCQGN SQWDGPEPRC VERHCSTFQM
PKDVIISPHN CGKQPAKFGT ICYVSCRQGF ILSGVKEMLR CTTSGKWNVG VQAAVCKDVE
APQINCPKDI EAKTLEQQDS ANVTWQIPTA KDNSGEKVSV HVHPAFTPPY LFPIGDVAIV
YTATDLSGNQ ASCIFHIKVI DAEPPVIDWC RSPPPVQVSE KVHAASWDEP QFSDNSGAEL
VITRSHTQGD LFPQGETIVQ YTATDPSGNN RTCDIHIVIK GSPCEIPFTP VNGDFICTPD
NTGVNCTLTC LEGYDFTEGS TDKYYCAYED GVWKPTYTTE WPDCAKKRFA NHGFKSFEMF
YKAARCDDTD LMKKFSEAFE TTLGKMVPSF CSDAEDIDCR LEENLTKKYC LEYNYDYENG
FAIGPGGWGA ANRLDYSYDD FLDTVQETAT SIGNARSSRI KRSAPLSDYK IKLIFNITAS
VPLPDERNDT LEWENQQRLL QTLETITNKL KRTLNKDPMY SFQLASEILI ADSNSLETKK
ASPFCRPGSV LRGRMCVNCP LGTYYNLEHF TCESCRIGSY QDEEGQLECK LCPSGMYTEY
IHSRNISDCK AQCKQGTYSY SGLETCESCP LGTYQPKFGS RSCLSCPENT STVKRGAVNI
SACGVPCPEG KFSRSGLMPC HPCPRDYYQP NAGKAFCLAC PFYGTTPFAG SRSITECSSF
SSTFSAAEES VVPPASLGHI KKRHEISSQV FHECFFNPCH NSGTCQQLGR GYVCLCPLGY
TGLKCETDID ECSPLPCLNN GVCKDLVGEF ICECPSGYTG QRCEENINEC SSSPCLNKGI
CVDGVAGYRC TCVKGFVGLH CETEVNECQS NPCLNNAVCE DQVGGFLCKC PPGFLGTRCG
KNVDECLSQP CKNGATCKDG ANSFRCLCAA GFTGSHCELN INECQSNPCR NQATCVDELN
SYSCKCQPGF SGKRCETEQS TGFNLDFEVS GIYGYVMLDG MLPSLHALTC TFWMKSSDDM
NYGTPISYAV DNGSDNTLLL TDYNGWVLYV NGREKITNCP SVNDGRWHHI AITWTSANGI
WKVYIDGKLS DGGAGLSVGL PIPGGGALVL GQEQDKKGEG FSPAESFVGS ISQLNLWDYV
LSPQQVKSLA TSCPEELSKG NVLAWPDFLS GIVGKVKIDS KSIFCSDCPR LGGSVPHLRT
ASEDLKPGSK VNLFCDPGFQ LVGNPVQYCL NQGQWTQPLP HCERISCGVP PPLENGFHSA
DDFYAGSTVT YQCNNGYYLL GDSRMFCTDN GSWNGVSPSC LDVDECAVGS DCSEHASCLN
VDGSYICSCV PPYTGDGKNC AEPIKCKAPG NPENGHSSGE IYTVGAEVTF SCQEGYQLMG
VTKITCLESG EWNHLIPYCK AVSCGKPAIP ENGCIEELAF TFGSKVTYRC NKGYTLAGDK
ESSCLANSSW SHSPPVCEPV KCSSPENINN GKYILSGLTY LSTASYSCDT GYSLQGPSII
ECTASGIWDR APPACHLVFC GEPPAIKDAV ITGNNFTFRN TVTYTCKEGY TLAGLDTIEC
LADGKWSRSD QQCLAVSCDE PPIVDHASPE TAHRLFGDIA FYYCSDGYSL ADNSQLLCNA
QGKWVPPEGQ DMPRCIAHFC EKPPSVSYSI LESVSKAKFA AGSVVSFKCM EGFVLNTSAK
IECMRGGQWN PSPMSIQCIP VRCGEPPSIM NGYASGSNYS FGAMVAYSCN KGFYIKGEKK
STCEATGQWS SPIPTCHPVS CGEPPKVENG FLEHTTGRIF ESEVRYQCNP GYKSVGSPVF
VCQANRHWHS ESPLMCVPLD CGKPPPIQNG FMKGENFEVG SKVQFFCNEG YELVGDSSWT
CQKSGKWNKK SNPKCMPAKC PEPPLLENQL VLKELTTEVG VVTFSCKEGH VLQGPSVLKC
LPSQQWNDSF PVCKIVLCTP PPLISFGVPI PSSALHFGST VKYSCVGGFF LRGNSTTLCQ
PDGTWSSPLP ECVPVECPQP EEIPNGIIDV QGLAYLSTAL YTCKPGFELV GNTTTLCGEN
GHWLGGKPTC KAIECLKPKE ILNGKFSYTD LHYGQTVTYS CNRGFRLEGP SALTCLETGD
WDVDAPSCNA IHCDSPQPIE NGFVEGADYS YGAIIIYSCF PGFQVAGHAM QTCEESGWSS
SIPTCMPIDC GLPPHIDFGD CTKLKDDQGY FEQEDDMMEV PYVTPHPPYH LGAVAKTWEN
TKESPATHSS NFLYGTMVSY TCNPGYELLG NPVLICQEDG TWNGSAPSCI SIECDLPTAP
ENGFLRFTET SMGSAVQYSC KPGHILAGSD LRLCLENRKW SGASPRCEAI SCKKPNPVMN
GSIKGSNYTY LSTLYYECDP GYVLNGTERR TCQDDKNWDE DEPICIPVDC SSPPVSANGQ
VRGDEYTFQK EIEYTCNEGF LLEGARSRVC LANGSWSGAT PDCVPVRCAT PPQLANGVTE
GLDYGFMKEV TFHCHEGYIL HGAPKLTCQS DGNWDAEIPL CKPVNCGPPE DLAHGFPNGF
SFIHGGHIQY QCFPGYKLHG NSSRRCLSNG SWSGSSPSCL PCRCSTPVIE YGTVNGTDFD
CGKAARIQCF KGFKLLGLSE ITCEADGQWS SGFPHCEHTS CGSLPMIPNA FISETSSWKE
NVITYSCRSG YVIQGSSDLI CTEKGVWSQP YPVCEPLSCG SPPSVANAVA TGEAHTYESE
VKLRCLEGYT MDTDTDTFTC QKDGRWFPER ISCSPKKCPL PENITHILVH GDDFSVNRQV
SVSCAEGYTF EGVNISVCQL DGTWEPPFSD ESCSPVSCGK PESPEHGFVV GSKYTFESTI
IYQCEPGYEL EGNRERVCQE NRQWSGGVAI CKETRCETPL EFLNGKADIE NRTTGPNVVY
SCNRGYSLEG PSEAHCTENG TWSHPVPLCK PNPCPVPFVI PENALLSEKE FYVDQNVSIK
CREGFLLQGH GIITCNPDET WTQTSAKCEK ISCGPPAHVE NAIARGVHYQ YGDMITYSCY
SGYMLEGFLR SVCLENGTWT SPPICRAVCR FPCQNGGICQ RPNACSCPEG WMGRLCEEPI
CILPCLNGGR CVAPYQCDCP PGWTGSRCHT AVCQSPCLNG GKCVRPNRCH CLSSWTGHNC
SRKRRTGF*
speed 0.85 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:113234507T>CN/A show variant in all transcripts   IGV
HGNC symbol SVEP1
Ensembl transcript ID ENST00000401783
Genbank transcript ID NM_153366
UniProt peptide Q4LDE5
alteration type single base exchange
alteration region CDS
DNA changes c.2696A>G
cDNA.3033A>G
g.107654A>G
AA changes K899R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 899
frameshift no
known variant Reference ID: rs10817025
databasehomozygous (C/C)heterozygousallele carriers
1000G133731864
ExAC41672176025927
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2050.013
0.5650.009
(flanking)0.2140.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      899VQETATSIGNAKSSRIKRSAPLSD
mutated  all conserved    899VQETATSIGNARSSRIKRSAPLS
Ptroglodytes  all conserved  ENSPTRG00000021246  899VQETATSIGNARSSRIKRSAPLS
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000004796  636VQETPS--GKARSSRMKRSALLS
Mmusculus  all conserved  ENSMUSG00000028369  899VQETPTDVGKARSSRIKRTVPLS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0032797  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 10716 / 10716
position (AA) of stopcodon in wt / mu AA sequence 3572 / 3572
position of stopcodon in wt / mu cDNA 11053 / 11053
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 338 / 338
chromosome 9
strand -1
last intron/exon boundary 11032
theoretical NMD boundary in CDS 10644
length of CDS 10716
coding sequence (CDS) position 2696
cDNA position
(for ins/del: last normal base / first normal base)		 3033
gDNA position
(for ins/del: last normal base / first normal base)		 107654
chromosomal position
(for ins/del: last normal base / first normal base)		 113234507
original gDNA sequence snippet CACAAGCATCGGCAATGCCAAGTCCTCACGGATTAAAAGAA
altered gDNA sequence snippet CACAAGCATCGGCAATGCCAGGTCCTCACGGATTAAAAGAA
original cDNA sequence snippet CACAAGCATCGGCAATGCCAAGTCCTCACGGATTAAAAGAA
altered cDNA sequence snippet CACAAGCATCGGCAATGCCAGGTCCTCACGGATTAAAAGAA
wildtype AA sequence MWPRLAFCCW GLALVSGWAT FQQMSPSRNF SFRLFPETAP GAPGSIPAPP APGDEAAGSR
VERLGQAFRR RVRLLRELSE RLELVFLVDD SSSVGEVNFR SELMFVRKLL SDFPVVPTAT
RVAIVTFSSK NYVVPRVDYI STRRARQHKC ALLLQEIPAI SYRGGGTYTK GAFQQAAQIL
LHARENSTKV VFLITDGYSN GGDPRPIAAS LRDSGVEIFT FGIWQGNIRE LNDMASTPKE
EHCYLLHSFE EFEALARRAL HEDLPSGSFI QDDMVHCSYL CDEGKDCCDR MGSCKCGTHT
GHFECICEKG YYGKGLQYEC TACPSGTYKP EGSPGGISSC IPCPDENHTS PPGSTSPEDC
VCREGYRASG QTCELVHCPA LKPPENGYFI QNTCNNHFNA ACGVRCHPGF DLVGSSIILC
LPNGLWSGSE SYCRVRTCPH LRQPKHGHIS CSTREMLYKT TCLVACDEGY RLEGSDKLTC
QGNSQWDGPE PRCVERHCST FQMPKDVIIS PHNCGKQPAK FGTICYVSCR QGFILSGVKE
MLRCTTSGKW NVGVQAAVCK DVEAPQINCP KDIEAKTLEQ QDSANVTWQI PTAKDNSGEK
VSVHVHPAFT PPYLFPIGDV AIVYTATDLS GNQASCIFHI KVIDAEPPVI DWCRSPPPVQ
VSEKVHAASW DEPQFSDNSG AELVITRSHT QGDLFPQGET IVQYTATDPS GNNRTCDIHI
VIKGSPCEIP FTPVNGDFIC TPDNTGVNCT LTCLEGYDFT EGSTDKYYCA YEDGVWKPTY
TTEWPDCAKK RFANHGFKSF EMFYKAARCD DTDLMKKFSE AFETTLGKMV PSFCSDAEDI
DCRLEENLTK KYCLEYNYDY ENGFAIGPGG WGAANRLDYS YDDFLDTVQE TATSIGNAKS
SRIKRSAPLS DYKIKLIFNI TASVPLPDER NDTLEWENQQ RLLQTLETIT NKLKRTLNKD
PMYSFQLASE ILIADSNSLE TKKASPFCRP GSVLRGRMCV NCPLGTYYNL EHFTCESCRI
GSYQDEEGQL ECKLCPSGMY TEYIHSRNIS DCKAQCKQGT YSYSGLETCE SCPLGTYQPK
FGSRSCLSCP ENTSTVKRGA VNISACGVPC PEGKFSRSGL MPCHPCPRDY YQPNAGKAFC
LACPFYGTTP FAGSRSITEC SSFSSTFSAA EESVVPPASL GHIKKRHEIS SQVFHECFFN
PCHNSGTCQQ LGRGYVCLCP LGYTGLKCET DIDECSPLPC LNNGVCKDLV GEFICECPSG
YTGQRCEENI NECSSSPCLN KGICVDGVAG YRCTCVKGFV GLHCETEVNE CQSNPCLNNA
VCEDQVGGFL CKCPPGFLGT RCGKNVDECL SQPCKNGATC KDGANSFRCL CAAGFTGSHC
ELNINECQSN PCRNQATCVD ELNSYSCKCQ PGFSGKRCET EQSTGFNLDF EVSGIYGYVM
LDGMLPSLHA LTCTFWMKSS DDMNYGTPIS YAVDNGSDNT LLLTDYNGWV LYVNGREKIT
NCPSVNDGRW HHIAITWTSA NGIWKVYIDG KLSDGGAGLS VGLPIPGGGA LVLGQEQDKK
GEGFSPAESF VGSISQLNLW DYVLSPQQVK SLATSCPEEL SKGNVLAWPD FLSGIVGKVK
IDSKSIFCSD CPRLGGSVPH LRTASEDLKP GSKVNLFCDP GFQLVGNPVQ YCLNQGQWTQ
PLPHCERISC GVPPPLENGF HSADDFYAGS TVTYQCNNGY YLLGDSRMFC TDNGSWNGVS
PSCLDVDECA VGSDCSEHAS CLNVDGSYIC SCVPPYTGDG KNCAEPIKCK APGNPENGHS
SGEIYTVGAE VTFSCQEGYQ LMGVTKITCL ESGEWNHLIP YCKAVSCGKP AIPENGCIEE
LAFTFGSKVT YRCNKGYTLA GDKESSCLAN SSWSHSPPVC EPVKCSSPEN INNGKYILSG
LTYLSTASYS CDTGYSLQGP SIIECTASGI WDRAPPACHL VFCGEPPAIK DAVITGNNFT
FRNTVTYTCK EGYTLAGLDT IECLADGKWS RSDQQCLAVS CDEPPIVDHA SPETAHRLFG
DIAFYYCSDG YSLADNSQLL CNAQGKWVPP EGQDMPRCIA HFCEKPPSVS YSILESVSKA
KFAAGSVVSF KCMEGFVLNT SAKIECMRGG QWNPSPMSIQ CIPVRCGEPP SIMNGYASGS
NYSFGAMVAY SCNKGFYIKG EKKSTCEATG QWSSPIPTCH PVSCGEPPKV ENGFLEHTTG
RIFESEVRYQ CNPGYKSVGS PVFVCQANRH WHSESPLMCV PLDCGKPPPI QNGFMKGENF
EVGSKVQFFC NEGYELVGDS SWTCQKSGKW NKKSNPKCMP AKCPEPPLLE NQLVLKELTT
EVGVVTFSCK EGHVLQGPSV LKCLPSQQWN DSFPVCKIVL CTPPPLISFG VPIPSSALHF
GSTVKYSCVG GFFLRGNSTT LCQPDGTWSS PLPECVPVEC PQPEEIPNGI IDVQGLAYLS
TALYTCKPGF ELVGNTTTLC GENGHWLGGK PTCKAIECLK PKEILNGKFS YTDLHYGQTV
TYSCNRGFRL EGPSALTCLE TGDWDVDAPS CNAIHCDSPQ PIENGFVEGA DYSYGAIIIY
SCFPGFQVAG HAMQTCEESG WSSSIPTCMP IDCGLPPHID FGDCTKLKDD QGYFEQEDDM
MEVPYVTPHP PYHLGAVAKT WENTKESPAT HSSNFLYGTM VSYTCNPGYE LLGNPVLICQ
EDGTWNGSAP SCISIECDLP TAPENGFLRF TETSMGSAVQ YSCKPGHILA GSDLRLCLEN
RKWSGASPRC EAISCKKPNP VMNGSIKGSN YTYLSTLYYE CDPGYVLNGT ERRTCQDDKN
WDEDEPICIP VDCSSPPVSA NGQVRGDEYT FQKEIEYTCN EGFLLEGARS RVCLANGSWS
GATPDCVPVR CATPPQLANG VTEGLDYGFM KEVTFHCHEG YILHGAPKLT CQSDGNWDAE
IPLCKPVNCG PPEDLAHGFP NGFSFIHGGH IQYQCFPGYK LHGNSSRRCL SNGSWSGSSP
SCLPCRCSTP VIEYGTVNGT DFDCGKAARI QCFKGFKLLG LSEITCEADG QWSSGFPHCE
HTSCGSLPMI PNAFISETSS WKENVITYSC RSGYVIQGSS DLICTEKGVW SQPYPVCEPL
SCGSPPSVAN AVATGEAHTY ESEVKLRCLE GYTMDTDTDT FTCQKDGRWF PERISCSPKK
CPLPENITHI LVHGDDFSVN RQVSVSCAEG YTFEGVNISV CQLDGTWEPP FSDESCSPVS
CGKPESPEHG FVVGSKYTFE STIIYQCEPG YELEGNRERV CQENRQWSGG VAICKETRCE
TPLEFLNGKA DIENRTTGPN VVYSCNRGYS LEGPSEAHCT ENGTWSHPVP LCKPNPCPVP
FVIPENALLS EKEFYVDQNV SIKCREGFLL QGHGIITCNP DETWTQTSAK CEKISCGPPA
HVENAIARGV HYQYGDMITY SCYSGYMLEG FLRSVCLENG TWTSPPICRA VCRFPCQNGG
ICQRPNACSC PEGWMGRLCE EPICILPCLN GGRCVAPYQC DCPPGWTGSR CHTAVCQSPC
LNGGKCVRPN RCHCLSSWTG HNCSRKRRTG F*
mutated AA sequence MWPRLAFCCW GLALVSGWAT FQQMSPSRNF SFRLFPETAP GAPGSIPAPP APGDEAAGSR
VERLGQAFRR RVRLLRELSE RLELVFLVDD SSSVGEVNFR SELMFVRKLL SDFPVVPTAT
RVAIVTFSSK NYVVPRVDYI STRRARQHKC ALLLQEIPAI SYRGGGTYTK GAFQQAAQIL
LHARENSTKV VFLITDGYSN GGDPRPIAAS LRDSGVEIFT FGIWQGNIRE LNDMASTPKE
EHCYLLHSFE EFEALARRAL HEDLPSGSFI QDDMVHCSYL CDEGKDCCDR MGSCKCGTHT
GHFECICEKG YYGKGLQYEC TACPSGTYKP EGSPGGISSC IPCPDENHTS PPGSTSPEDC
VCREGYRASG QTCELVHCPA LKPPENGYFI QNTCNNHFNA ACGVRCHPGF DLVGSSIILC
LPNGLWSGSE SYCRVRTCPH LRQPKHGHIS CSTREMLYKT TCLVACDEGY RLEGSDKLTC
QGNSQWDGPE PRCVERHCST FQMPKDVIIS PHNCGKQPAK FGTICYVSCR QGFILSGVKE
MLRCTTSGKW NVGVQAAVCK DVEAPQINCP KDIEAKTLEQ QDSANVTWQI PTAKDNSGEK
VSVHVHPAFT PPYLFPIGDV AIVYTATDLS GNQASCIFHI KVIDAEPPVI DWCRSPPPVQ
VSEKVHAASW DEPQFSDNSG AELVITRSHT QGDLFPQGET IVQYTATDPS GNNRTCDIHI
VIKGSPCEIP FTPVNGDFIC TPDNTGVNCT LTCLEGYDFT EGSTDKYYCA YEDGVWKPTY
TTEWPDCAKK RFANHGFKSF EMFYKAARCD DTDLMKKFSE AFETTLGKMV PSFCSDAEDI
DCRLEENLTK KYCLEYNYDY ENGFAIGPGG WGAANRLDYS YDDFLDTVQE TATSIGNARS
SRIKRSAPLS DYKIKLIFNI TASVPLPDER NDTLEWENQQ RLLQTLETIT NKLKRTLNKD
PMYSFQLASE ILIADSNSLE TKKASPFCRP GSVLRGRMCV NCPLGTYYNL EHFTCESCRI
GSYQDEEGQL ECKLCPSGMY TEYIHSRNIS DCKAQCKQGT YSYSGLETCE SCPLGTYQPK
FGSRSCLSCP ENTSTVKRGA VNISACGVPC PEGKFSRSGL MPCHPCPRDY YQPNAGKAFC
LACPFYGTTP FAGSRSITEC SSFSSTFSAA EESVVPPASL GHIKKRHEIS SQVFHECFFN
PCHNSGTCQQ LGRGYVCLCP LGYTGLKCET DIDECSPLPC LNNGVCKDLV GEFICECPSG
YTGQRCEENI NECSSSPCLN KGICVDGVAG YRCTCVKGFV GLHCETEVNE CQSNPCLNNA
VCEDQVGGFL CKCPPGFLGT RCGKNVDECL SQPCKNGATC KDGANSFRCL CAAGFTGSHC
ELNINECQSN PCRNQATCVD ELNSYSCKCQ PGFSGKRCET EQSTGFNLDF EVSGIYGYVM
LDGMLPSLHA LTCTFWMKSS DDMNYGTPIS YAVDNGSDNT LLLTDYNGWV LYVNGREKIT
NCPSVNDGRW HHIAITWTSA NGIWKVYIDG KLSDGGAGLS VGLPIPGGGA LVLGQEQDKK
GEGFSPAESF VGSISQLNLW DYVLSPQQVK SLATSCPEEL SKGNVLAWPD FLSGIVGKVK
IDSKSIFCSD CPRLGGSVPH LRTASEDLKP GSKVNLFCDP GFQLVGNPVQ YCLNQGQWTQ
PLPHCERISC GVPPPLENGF HSADDFYAGS TVTYQCNNGY YLLGDSRMFC TDNGSWNGVS
PSCLDVDECA VGSDCSEHAS CLNVDGSYIC SCVPPYTGDG KNCAEPIKCK APGNPENGHS
SGEIYTVGAE VTFSCQEGYQ LMGVTKITCL ESGEWNHLIP YCKAVSCGKP AIPENGCIEE
LAFTFGSKVT YRCNKGYTLA GDKESSCLAN SSWSHSPPVC EPVKCSSPEN INNGKYILSG
LTYLSTASYS CDTGYSLQGP SIIECTASGI WDRAPPACHL VFCGEPPAIK DAVITGNNFT
FRNTVTYTCK EGYTLAGLDT IECLADGKWS RSDQQCLAVS CDEPPIVDHA SPETAHRLFG
DIAFYYCSDG YSLADNSQLL CNAQGKWVPP EGQDMPRCIA HFCEKPPSVS YSILESVSKA
KFAAGSVVSF KCMEGFVLNT SAKIECMRGG QWNPSPMSIQ CIPVRCGEPP SIMNGYASGS
NYSFGAMVAY SCNKGFYIKG EKKSTCEATG QWSSPIPTCH PVSCGEPPKV ENGFLEHTTG
RIFESEVRYQ CNPGYKSVGS PVFVCQANRH WHSESPLMCV PLDCGKPPPI QNGFMKGENF
EVGSKVQFFC NEGYELVGDS SWTCQKSGKW NKKSNPKCMP AKCPEPPLLE NQLVLKELTT
EVGVVTFSCK EGHVLQGPSV LKCLPSQQWN DSFPVCKIVL CTPPPLISFG VPIPSSALHF
GSTVKYSCVG GFFLRGNSTT LCQPDGTWSS PLPECVPVEC PQPEEIPNGI IDVQGLAYLS
TALYTCKPGF ELVGNTTTLC GENGHWLGGK PTCKAIECLK PKEILNGKFS YTDLHYGQTV
TYSCNRGFRL EGPSALTCLE TGDWDVDAPS CNAIHCDSPQ PIENGFVEGA DYSYGAIIIY
SCFPGFQVAG HAMQTCEESG WSSSIPTCMP IDCGLPPHID FGDCTKLKDD QGYFEQEDDM
MEVPYVTPHP PYHLGAVAKT WENTKESPAT HSSNFLYGTM VSYTCNPGYE LLGNPVLICQ
EDGTWNGSAP SCISIECDLP TAPENGFLRF TETSMGSAVQ YSCKPGHILA GSDLRLCLEN
RKWSGASPRC EAISCKKPNP VMNGSIKGSN YTYLSTLYYE CDPGYVLNGT ERRTCQDDKN
WDEDEPICIP VDCSSPPVSA NGQVRGDEYT FQKEIEYTCN EGFLLEGARS RVCLANGSWS
GATPDCVPVR CATPPQLANG VTEGLDYGFM KEVTFHCHEG YILHGAPKLT CQSDGNWDAE
IPLCKPVNCG PPEDLAHGFP NGFSFIHGGH IQYQCFPGYK LHGNSSRRCL SNGSWSGSSP
SCLPCRCSTP VIEYGTVNGT DFDCGKAARI QCFKGFKLLG LSEITCEADG QWSSGFPHCE
HTSCGSLPMI PNAFISETSS WKENVITYSC RSGYVIQGSS DLICTEKGVW SQPYPVCEPL
SCGSPPSVAN AVATGEAHTY ESEVKLRCLE GYTMDTDTDT FTCQKDGRWF PERISCSPKK
CPLPENITHI LVHGDDFSVN RQVSVSCAEG YTFEGVNISV CQLDGTWEPP FSDESCSPVS
CGKPESPEHG FVVGSKYTFE STIIYQCEPG YELEGNRERV CQENRQWSGG VAICKETRCE
TPLEFLNGKA DIENRTTGPN VVYSCNRGYS LEGPSEAHCT ENGTWSHPVP LCKPNPCPVP
FVIPENALLS EKEFYVDQNV SIKCREGFLL QGHGIITCNP DETWTQTSAK CEKISCGPPA
HVENAIARGV HYQYGDMITY SCYSGYMLEG FLRSVCLENG TWTSPPICRA VCRFPCQNGG
ICQRPNACSC PEGWMGRLCE EPICILPCLN GGRCVAPYQC DCPPGWTGSR CHTAVCQSPC
LNGGKCVRPN RCHCLSSWTG HNCSRKRRTG F*
speed 0.90 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:113234507T>CN/A show variant in all transcripts   IGV
HGNC symbol SVEP1
Ensembl transcript ID ENST00000302728
Genbank transcript ID N/A
UniProt peptide Q4LDE5
alteration type single base exchange
alteration region CDS
DNA changes c.2696A>G
cDNA.2696A>G
g.107654A>G
AA changes K899R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 899
frameshift no
known variant Reference ID: rs10817025
databasehomozygous (C/C)heterozygousallele carriers
1000G133731864
ExAC41672176025927
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2050.013
0.5650.009
(flanking)0.2140.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      899VQETATSIGNAKSSRIKRSAPLSD
mutated  all conserved    899VQETATSIGNARSSRIKRSAPLS
Ptroglodytes  all conserved  ENSPTRG00000021246  899VQETATSIGNARSSRIKRSAPLS
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000004796  636VQETPS--GKARSSRMKRSALLS
Mmusculus  all conserved  ENSMUSG00000028369  899VQETPTDVGKARSSRIKRTVPLS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0032797  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4650 / 4650
position (AA) of stopcodon in wt / mu AA sequence 1550 / 1550
position of stopcodon in wt / mu cDNA 4650 / 4650
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 9
strand -1
last intron/exon boundary 4464
theoretical NMD boundary in CDS 4413
length of CDS 4650
coding sequence (CDS) position 2696
cDNA position
(for ins/del: last normal base / first normal base)		 2696
gDNA position
(for ins/del: last normal base / first normal base)		 107654
chromosomal position
(for ins/del: last normal base / first normal base)		 113234507
original gDNA sequence snippet CACAAGCATCGGCAATGCCAAGTCCTCACGGATTAAAAGAA
altered gDNA sequence snippet CACAAGCATCGGCAATGCCAGGTCCTCACGGATTAAAAGAA
original cDNA sequence snippet CACAAGCATCGGCAATGCCAAGTCCTCACGGATTAAAAGAA
altered cDNA sequence snippet CACAAGCATCGGCAATGCCAGGTCCTCACGGATTAAAAGAA
wildtype AA sequence MWPRLAFCCW GLALVSGWAT FQQMSPSRNF SFRLFPETAP GAPGSIPAPP APGDEAAGSR
VERLGQAFRR RVRLLRELSE RLELVFLVDD SSSVGEVNFR SELMFVRKLL SDFPVVPTAT
RVAIVTFSSK NYVVPRVDYI STRRARQHKC ALLLQEIPAI SYRGGGTYTK GAFQQAAQIL
LHARENSTKV VFLITDGYSN GGDPRPIAAS LRDSGVEIFT FGIWQGNIRE LNDMASTPKE
EHCYLLHSFE EFEALARRAL HEDLPSGSFI QDDMVHCSYL CDEGKDCCDR MGSCKCGTHT
GHFECICEKG YYGKGLQYEC TACPSGTYKP EGSPGGISSC IPCPDENHTS PPGSTSPEDC
VCREGYRASG QTCELVHCPA LKPPENGYFI QNTCNNHFNA ACGVRCHPGF DLVGSSIILC
LPNGLWSGSE SYCRVRTCPH LRQPKHGHIS CSTREMLYKT TCLVACDEGY RLEGSDKLTC
QGNSQWDGPE PRCVERHCST FQMPKDVIIS PHNCGKQPAK FGTICYVSCR QGFILSGVKE
MLRCTTSGKW NVGVQAAVCK DVEAPQINCP KDIEAKTLEQ QDSANVTWQI PTAKDNSGEK
VSVHVHPAFT PPYLFPIGDV AIVYTATDLS GNQASCIFHI KVIDAEPPVI DWCRSPPPVQ
VSEKVHAASW DEPQFSDNSG AELVITRSHT QGDLFPQGET IVQYTATDPS GNNRTCDIHI
VIKGSPCEIP FTPVNGDFIC TPDNTGVNCT LTCLEGYDFT EGSTDKYYCA YEDGVWKPTY
TTEWPDCAKK RFANHGFKSF EMFYKAARCD DTDLMKKFSE AFETTLGKMV PSFCSDAEDI
DCRLEENLTK KYCLEYNYDY ENGFAIGPGG WGAANRLDYS YDDFLDTVQE TATSIGNAKS
SRIKRSAPLS DYKIKLIFNI TASVPLPDER NDTLEWENQQ RLLQTLETIT NKLKRTLNKD
PMYSFQLASE ILIADSNSLE TKKASPFCRP GSVLRGRMCV NCPLGTYYNL EHFTCESCRI
GSYQDEEGQL ECKLCPSGMY TEYIHSRNIS DCKAQCKQGT YSYSGLETCE SCPLGTYQPK
FGSRSCLSCP ENTSTVKRGA VNISACGVPC PEGKFSRSGL MPCHPCPRDY YQPNAGKAFC
LACPFYGTTP FAGSRSITEC SSFSSTFSAA EESVVPPASL GHIKKRHEIS SRVFHECFFN
PCHNSGTCQQ LGRGYVCLCP LGYTGLKCET DIDECSPLPC LNNGVCKDLV GEFICECPSG
YTGQRCEENI NECSSSPCLN KGICVDGVAG YRCTCVKGFV GLHCETEVNE CQSNPCLNNA
VCEDQVGGFL CKCPPGFLGT RCGKNVDECL SQPCKNGATC KDGANSFRCL CAAGFTGSHC
ELNINECQSN PCRNQATCVD ELNSYSCKCQ PGFSGKRCET EQSTGFNLDF EVSGIYGYVM
LDGMLPSLHA LTCTFWMKSS DDMNYGTPIS YAVDNGSDNT LLLTDYNGWV LYVNGREKIT
NCPSVNDGRW HHIAITWTSA NGIWKVYIDG KLSDGGAGLS VGLPIPGMF*
mutated AA sequence MWPRLAFCCW GLALVSGWAT FQQMSPSRNF SFRLFPETAP GAPGSIPAPP APGDEAAGSR
VERLGQAFRR RVRLLRELSE RLELVFLVDD SSSVGEVNFR SELMFVRKLL SDFPVVPTAT
RVAIVTFSSK NYVVPRVDYI STRRARQHKC ALLLQEIPAI SYRGGGTYTK GAFQQAAQIL
LHARENSTKV VFLITDGYSN GGDPRPIAAS LRDSGVEIFT FGIWQGNIRE LNDMASTPKE
EHCYLLHSFE EFEALARRAL HEDLPSGSFI QDDMVHCSYL CDEGKDCCDR MGSCKCGTHT
GHFECICEKG YYGKGLQYEC TACPSGTYKP EGSPGGISSC IPCPDENHTS PPGSTSPEDC
VCREGYRASG QTCELVHCPA LKPPENGYFI QNTCNNHFNA ACGVRCHPGF DLVGSSIILC
LPNGLWSGSE SYCRVRTCPH LRQPKHGHIS CSTREMLYKT TCLVACDEGY RLEGSDKLTC
QGNSQWDGPE PRCVERHCST FQMPKDVIIS PHNCGKQPAK FGTICYVSCR QGFILSGVKE
MLRCTTSGKW NVGVQAAVCK DVEAPQINCP KDIEAKTLEQ QDSANVTWQI PTAKDNSGEK
VSVHVHPAFT PPYLFPIGDV AIVYTATDLS GNQASCIFHI KVIDAEPPVI DWCRSPPPVQ
VSEKVHAASW DEPQFSDNSG AELVITRSHT QGDLFPQGET IVQYTATDPS GNNRTCDIHI
VIKGSPCEIP FTPVNGDFIC TPDNTGVNCT LTCLEGYDFT EGSTDKYYCA YEDGVWKPTY
TTEWPDCAKK RFANHGFKSF EMFYKAARCD DTDLMKKFSE AFETTLGKMV PSFCSDAEDI
DCRLEENLTK KYCLEYNYDY ENGFAIGPGG WGAANRLDYS YDDFLDTVQE TATSIGNARS
SRIKRSAPLS DYKIKLIFNI TASVPLPDER NDTLEWENQQ RLLQTLETIT NKLKRTLNKD
PMYSFQLASE ILIADSNSLE TKKASPFCRP GSVLRGRMCV NCPLGTYYNL EHFTCESCRI
GSYQDEEGQL ECKLCPSGMY TEYIHSRNIS DCKAQCKQGT YSYSGLETCE SCPLGTYQPK
FGSRSCLSCP ENTSTVKRGA VNISACGVPC PEGKFSRSGL MPCHPCPRDY YQPNAGKAFC
LACPFYGTTP FAGSRSITEC SSFSSTFSAA EESVVPPASL GHIKKRHEIS SRVFHECFFN
PCHNSGTCQQ LGRGYVCLCP LGYTGLKCET DIDECSPLPC LNNGVCKDLV GEFICECPSG
YTGQRCEENI NECSSSPCLN KGICVDGVAG YRCTCVKGFV GLHCETEVNE CQSNPCLNNA
VCEDQVGGFL CKCPPGFLGT RCGKNVDECL SQPCKNGATC KDGANSFRCL CAAGFTGSHC
ELNINECQSN PCRNQATCVD ELNSYSCKCQ PGFSGKRCET EQSTGFNLDF EVSGIYGYVM
LDGMLPSLHA LTCTFWMKSS DDMNYGTPIS YAVDNGSDNT LLLTDYNGWV LYVNGREKIT
NCPSVNDGRW HHIAITWTSA NGIWKVYIDG KLSDGGAGLS VGLPIPGMF*
speed 0.67 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems